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Fumarase deficiency presenting with periventricular cysts

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Journal of Inherited Metabolic Disease

Summary

A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.

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References

  • Coughlin EM, Christensen E, Kunz PL, et al (1998) Molecular analysis and prenatal diagnosis of human fumarase deficiency. Mol Genet Metab 63(4): 254–262.

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Authors and Affiliations

  1. Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands

    J. Loeffen, R. Smeets & J. Smeitink

  2. Universitätsklinikum Essen, Essen, Germany

    T. Voit & G. Hoffmann

  3. Department of Paediatrics, University Medical Centre St Radboud, Geert Groteplein-zuid 10, Nijmegen, Gelderland, 6525GA, The Netherlands

    J. Loeffen

Authors
  1. J. Loeffen
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  2. R. Smeets
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  3. T. Voit
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  4. G. Hoffmann
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  5. J. Smeitink
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Corresponding author

Correspondence to J. Loeffen.

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Loeffen, J., Smeets, R., Voit, T. et al. Fumarase deficiency presenting with periventricular cysts. J Inherit Metab Dis 28, 799–800 (2005). https://doi.org/10.1007/s10545-005-0044-7

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  • DOI: https://doi.org/10.1007/s10545-005-0044-7

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